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Rasmussen, Astrid
One or more keywords matched the following items that are connected to Rasmussen, Astrid
Item TypeName
Concept Pedigree
Academic Article Mutations in EFHC1 cause juvenile myoclonic epilepsy.
Academic Article Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico.
Academic Article Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis.
Academic Article Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.
Academic Article Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma.
Academic Article Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5.
Academic Article Huntington's Disease-like 2 (HDL2) in North America and Japan.
Academic Article Extensive cerebellar and thalamic degeneration in spinocerebellar ataxia type 10.
Academic Article Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families.
Academic Article Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.
Academic Article Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population.
Academic Article Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17.
Academic Article The lupus family registry and repository.
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  • Pedigree